Analysis of CHRND Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1767-LGZ)

Introduction

Official Full Name: cholinergic receptor nicotinic delta subunit<br />Also known as: ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS<br />The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene.